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Gene Review:

PHF6 - PHD finger protein 6

Homo sapiens

Synonyms: BFLS, BORJ, CENP-31, KIAA1823, MGC14797, ...

Lower, K.M. et al., Corbett, M., Visootsak, J. et al., Crawford, J. et al., Birrell, G. et al., et al.

Mark Corbett,

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Disease relevance of PHF6

Germline mutations in PHF6 cause Börjeson-Forssman-Lehmann syndrome (BFLS; OMIM 301900).
Somatic mutations in PHF6 are present in about 20% of T-cell acute lymphoblastic leukaemia [1] and to a lesser extent in adult acute myeloid leukaemia [2].
Börjeson-Forssman-Lehmann syndrome (BFLS; OMIM 301900) is characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears [3].
We describe two brothers with Borjeson-Forssman-Lehmann syndrome and the 22A-->T (Lys8X) PHF6 mutation, who presented with the symptoms and signs of multiple pituitary hormone deficiency [4].

High impact information on PHF6

Among these, a novel, widely expressed zinc-finger (plant homeodomain (PHD)-like finger) gene (PHF6) had eight different missense and truncation mutations in seven familial and two sporadic cases of BFLS [3].

Biological context of PHF6

OBJECTIVE: To describe clinical and behavioral features of 10 men from 2 families with Borjeson-Forssman-Lehmann syndrome (BFLS) and missense mutations in the PHF6 zinc-finger transcription factor gene [5].
OBJECTIVE: To present the results of mutation screening in individuals referred for PHF6 testing and discuss the value of prior X-inactivation testing in the mothers of these individuals [6].

Regulatory relationships of PHF6

A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome [7].

Other interactions of PHF6

The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations [8].

References

PHF6 mutations in T-cell acute lymphoblastic leukemia. Van Vlierberghe, P., Palomero, T., Khiabanian, H., Van der Meulen, J., Castillo, M., Van Roy, N., De Moerloose, B., Philippé, J., González-García, S., Toribio, M.L., Taghon, T., Zuurbier, L., Cauwelier, B., Harrison, C.J., Schwab, C., Pisecker, M., Strehl, S., Langerak, A.W., Gecz, J., Sonneveld, E., Pieters, R., Paietta, E., Rowe, J.M., Wiernik, P.H., Benoit, Y., Soulier, J., Poppe, B., Yao, X., Cordon-Cardo, C., Meijerink, J., Rabadan, R., Speleman, F., Ferrando, A. Nat. Genet. (2010) [Pubmed]
PHF6 mutations in adult acute myeloid leukemia. Van Vlierberghe, P., Patel, J., Abdel-Wahab, O., Lobry, C., Hedvat, C.V., Balbin, M., Nicolas, C., Payer, A.R., Fernandez, H.F., Tallman, M.S., Paietta, E., Melnick, A., Vandenberghe, P., Speleman, F., Aifantis, I., Cools, J., Levine, R., Ferrando, A. Leukemia. (2010) [Pubmed]
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. Lower, K.M., Turner, G., Kerr, B.A., Mathews, K.D., Shaw, M.A., Gedeon, A.K., Schelley, S., Hoyme, H.E., White, S.M., Delatycki, M.B., Lampe, A.K., Clayton-Smith, J., Stewart, H., van Ravenswaay, C.M., de Vries, B.B., Cox, B., Grompe, M., Ross, S., Thomas, P., Mulley, J.C., Gécz, J. Nat. Genet. (2002) [Pubmed]
Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency. Birrell, G., Lampe, A., Richmond, S., Bruce, S.N., Gécz, J., Lower, K., Wright, M., Cheetham, T.D. Journal of pediatric endocrinology & metabolism : JPEM. (2003) [Pubmed]
Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6. Visootsak, J., Rosner, B., Dykens, E., Schwartz, C., Hahn, K., White, S.M., Szeftel, R., Graham, J.M. J. Pediatr. (2004) [Pubmed]
Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. Crawford, J., Lower, K.M., Hennekam, R.C., Van Esch, H., Mégarbané, A., Lynch, S.A., Turner, G., Gécz, J. J. Med. Genet. (2006) [Pubmed]
A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome. Vallée, D., Chevrier, E., Graham, G.E., Lazzaro, M.A., Lavigne, P.A., Hunter, A.G., Picketts, D.J. J. Med. Genet. (2004) [Pubmed]
The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. Turner, G., Lower, K.M., White, S.M., Delatycki, M., Lampe, A.K., Wright, M., Smith, J.C., Kerr, B., Schelley, S., Hoyme, H.E., De Vries, B.B., Kleefstra, T., Grompe, M., Cox, B., Gecz, J., Partington, M. Clin. Genet. (2004) [Pubmed]

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PHF6	Bos taurus
PHF6	Canis lupus familiaris
phf6	Danio rerio
PHF6	Gallus gallus
PHF6	Macaca mulatta
Phf6	Mus musculus
PHF6	Pan troglodytes
Phf6	Rattus norvegicus
phf6	Xenopus (Silurana) tropicalis

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